Search unique variants - HGD mutation database - Leiden Open Variation Database

Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

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The variants below are all in the HGD database, matching your query. In this view only variant fields are shown. Variants are listed only once, a number is present in the DNA change field when a variant has been reported more than once (in such cases fields other than the DNA change just belong to one entry and may differ for other entries).
Selecting and clicking a specific line will open a detailed view showing all variant entries, including patient and pathogenicity information.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the HGD full legend here.

37 entries
entries per page

DB-ID

Exon

DNA change

RNA change

Protein

Original description

Links

Variant remarks

Predicted Mutation Effect**

Reference

Mutation HOT-SPOT

Allele code

Type

Re-site

Frequency

Template

Technique

Location


AKU_00126	01i	c.16-175C>G	r.(?)	p.(?)	ivs1-175C>G	rs17140398	polymorphism	-	Vilboux et al. (2009)	-	AKU_POL_20	substitution	-	0,234(G)	DNA	SEQ	intron
AKU_00107	02i	c.87+35A>T	r.(?)	p.(?)	ivs2+35A>T	rs2733825	polymorphism	-	de Bernabe et al. (1998)	-	AKU_POL_1	substitution	-	0,12(T)	DNA	SEQ	intron
AKU_00127	02i	c.87+118A>G	r.(?)	p.(?)	ivs2+118A>G	rs17140396	polymorphism	-	Vilboux et al. (2009)	-	AKU_POL_21	substitution	-	0,076(G)	DNA	SEQ	intron
AKU_00108	02i	c.88-218A>T	r.(?)	p.(?)	ivs2-218A>T	-	polymorphism	-	Granadino et al. (1997)	-	AKU_POL_2	substitution	-	-	DNA	SEQ	intron
AKU_00128	03i	c.176+114T>A	r.(?)	p.(?)	ivs3+114T>A	-	polymorphism	-	Vilboux et al. (2009)	-	AKU_POL_22	substitution	-	0,013(A)	DNA	SEQ	intron
AKU_00109	03i	c.177-112C>T	r.(?)	p.(?)	ivs3-112C>T	-	polymorphism	-	AKU database	-	AKU_POL_3	substitution	-	0,45(T)	DNA	SEQ	intron
AKU_00112	03i	c.177-52A>C	r.(?)	p.(?)	ivs3-52A>C	rs376858353	polymorphism	-	AKU database	-	AKU_POL_6	substitution	-	0,01(C)	DNA	SEQ	intron
AKU_00111	03i	c.177-50C>T	r.(?)	p.(?)	ivs3-50C>T	rs145728491	polymorphism	-	AKU database	-	AKU_POL_5	substitution	-	0,03(T)	DNA	SEQ	intron
AKU_00110	03i	c.177-35T>G	r.(?)	p.(?)	ivs3-35T>G	-	polymorphism	-	AKU database	-	AKU_POL_4	substitution	-	0,01(G)	DNA	SEQ	intron
AKU_00115	04i	al.161-163;(CT)n (c.283-5218_283-5168(CT)n)	r.(?)	p.(?)	HGO-1, D3S4496	-	polymorphism,GDB:5584234/UniSTS:474553	-	Granadino et al. (1997)	-	AKU_POL_9	dinucleotide repeat	-	0,89(al.161);0,11(al.163)	DNA	SEQ	intron
AKU_00114	04i	al.175-201;(CA)n (c.282+942_282+979(TG)n)	r.(?)	p.(?)	HGO-3, D3S4556	-	polymorphism,GDB:	-	de Bernabe et al. (1998)	-	AKU_POL_8	dinucleotide repeat	-	0,208(al.189);0,2(al.193)	DNA	SEQ	intron
AKU_00113	04	c.240A>T	r.(?)	p.(His80Gln)	H80Q	rs2255543	missense/polymorphism	-	de Bernabe et al. (1998)	-	AKU_POL_7	substitution	(+)NlaIII	0,22(A)	DNA	SEQ	exon
AKU_00129	04	c.260A>C	r.(?)	p.(Glu87Ala)	E87A	rs35702995	missense/polymorphism	Protomer destabilisation, Hexamer disruption	Vilboux et al. (2009)	-	AKU_POL_23	substitution	(+)SfaNI	-	DNA	SEQ	exon
AKU_00116	04i	c.282+31A>G	r.(?)	p.(?)	ivs4+31A>G	rs1800722	polymorphism	-	de Bernabe et al. (1999b)	-	AKU_POL_10	substitution	-	0,02(G)	DNA	SEQ	intron
AKU_00130	04i	c.283-145C>T	r.(?)	p.(?)	ivs4-145C>T	-	polymorphism	-	Vilboux et al. (2009)	-	AKU_POL_24	substitution	-	0,032(T)	DNA	SEQ	intron
AKU_00117	04i	c.283-14insA	r.(?)	p.(?)	ivs4-14insA	-	polymorphism	-	AKU database	-	AKU_POL_11	insertion	-	0,01(A)	DNA	SEQ	intron
AKU_00118	04i	c.283-4T>C	r.(?)	p.(?)	ivs4-4T>C	-	aberrant splicing (AS)/exon skipping, polymorphism?	-	AKU database	-	AKU_POL_12	substitution	-	0,001(C)	DNA	SEQ	intron
AKU_00119	05i	c.342+25T>C	r.(?)	p.(?)	ivs5+25T>C	rs2551607	polymorphism	-	de Bernabe et al. (1998)	-	AKU_POL_13	substitution	-	0,12(C.)	DNA	SEQ	intron
AKU_00120	06i	c.434+46C>A	r.(?)	p.(?)	ivs6+46C>A	rs3817627	polymorphism	-	de Bernabe et al. (1998)	-	AKU_POL_14	substitution	-	0,31(A)	DNA	SEQ	intron
AKU_00131	07i	c.469+24C>A (Reported 2 times)	r.(?)	p.(?)	ivs7+24C>A	rs756912701	polymorphism	-	Vilboux et al. (2009)	-	AKU_POL_25	substitution	-	0,013(A)	DNA	SEQ	intron
AKU_00132	08	c.474G>T	r.(?)	p.(Pro158Pro)	P158P	rs2293734	silent/polymorphism	-	Vilboux et al. (2009)	CpG	AKU_POL_26	substitution	(+)EcoNI, DdeI, MnlI; (-)AciI	-	DNA	SEQ	exon
AKU_00144	08	c.507T>G	r.(?)	p.(Phe169Leu)	F169L	rs756134838	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_DB_122b	substitution	-	-	DNA	SEQ	exon
AKU_00106	08i	c.549+31C>T	r.(?)	p.(?)	ivs8+31C>T	-	polymorphism	-	Vilboux et al. (2009)	-	AKU_POL_35	substitution	-	0,006(T)	DNA	SEQ	intron
AKU_00189	09i	c.649+31G>A	r.(?)	p.(?)	ivs9+31G>A	rs376223608	polymorphism	-	Usher et al. (2015)	-	AKU_DB_122c	substitution	-	-	DNA	SEQ	intron
AKU_00133	09i	c.649+104C>T	r.(?)	p.(?)	ivs9+104C>T	rs1862942	polymorphism	-	Vilboux et al. (2009)	-	AKU_POL_27	substitution	-	0,095(T)	DNA	SEQ	intron
AKU_00134	09i	c.650-86A>G	r.(?)	p.(?)	ivs9-86A>G	rs2075504	polymorphism	-	Vilboux et al. (2009)	-	AKU_POL_28	substitution	-	0,057(G)	DNA	SEQ	intron
AKU_00067	09i	c.650-56G>A (Reported 3 times)	r.(spl?)	p.(?)	ivs9-56G>A	-	aberrant splicing (AS)/exon skipping	-	de Bernabe et al. (1998)	CCC triplet	AKU_DB_10a	substitution	-	-	DNA	SEQ	intron
AKU_00121	09i	c.650-38insA	r.(?)	p.(?)	ivs9-38insA	-	polymorphism	-	de Bernabe et al. (1998)	-	AKU_POL_15	substitution	-	0,013(A)	DNA	SEQ	intron
AKU_00068	09i	c.650-17G>A	r.(spl?)	p.(?)	ivs9-17G>A	-	aberrant splicing (AS)/exon skipping	-	de Bernabe et al. (1998)	CCC triplet	AKU_DB_10b	substitution	-	-	DNA	SEQ	intron
AKU_00123	11	c.832A>G	r.(?)	p.(Asn278Asp)	N278D	rs370920635	missense/polymorphism?, found in one normal chromosome	Protomer destabilisation	AKU database	-	AKU_POL_17	substitution	-	-	DNA	SEQ	exon
AKU_00122	11i	c.879+18A>G	r.(?)	p.(?)	ivs11+18A>G	rs1800700	polymorphism	-	de Bernabe et al. (1999b)	-	AKU_POL_16	substitution	-	0,02(G)	DNA	SEQ	intron
AKU_00135	12i	c.1007-170A>G	r.(?)	p.(?)	ivs12-170A>G	-	polymorphism	-	Vilboux et al. (2009)	-	AKU_POL_29	substitution	-	0,006(G)	DNA	SEQ	intron
AKU_00124	13i	al.173-199;(CA)n	r.(?)	p.(?)	HGO-2, D3S4497	-	polymorphism,GDB:5584249/UniSTS:474554	-	Granadino et al. (1997)	-	AKU_POL_18	dinucleotide repeat	-	0,208(al.187)	DNA	SEQ	intron
AKU_00125	13i	c.1188+51A>G	r.(?)	p.(?)	ivs13+51A>G	rs112229599	polymorphism, found in one algerian normal chromosome	-	AKU database	-	AKU_POL_19	substitution	-	0,006(G)	DNA	SEQ	intron
AKU_00136	13i	c.1188+89C>T	r.(?)	p.(?)	ivs13+89C>T	-	polymorphism	-	Vilboux et al. (2009)	-	AKU_POL_30	substitution	-	0,025(T)	DNA	SEQ	intron
AKU_00137	13i	c.1188+142G>T	r.(?)	p.(?)	ivs13+142G>T	rs61799339	polymorphism	-	Vilboux et al. (2009)	-	AKU_POL_31	substitution	-	0,063(T)	DNA	SEQ	intron
AKU_00138	13i	c.1188+203G>A	r.(?)	p.(?)	ivs13+203G>A	rs804974	polymorphism	-	Vilboux et al. (2009)	-	AKU_POL_32	substitution	-	0,203(T)	DNA	SEQ	intron

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Coding DNA Reference Sequence: NM_000187.3, the first base of the Met-codon is counted as position 1.

Some specific features:
Exon: (00) stands for any exon; (i) indicates intron.
DNA: (c.?) or wobble code is used when nucleotide change was not known or not indicated
Variant original description: brief name of the mutation; if original description of the mutation was different, it is indicated after comma
Remarks: description of the variant, AS= acceptor site, DS=donor site
Predicted Mutation Effect**: The effects of the novel missense variants on stability and protein-protein afinity was assessed in the context
of the molecular interactions of the wild-type residue using mCSM Pires et al. (2014a) and DUET Pires et al. (2014b). Details are downloadable here: TABLE

Allele_code: i.e. patient with the Patient_ID (AKU_AQR_11) has alleles AKU_AQR_11a and AKU_AQR_11b
Restriction site: mutation abolishes (-) or creates (+) specific restriction site
Frequency: of specific polymorphic alleles (AKUdatabase or Vilboux at al. (2009))
Patient_ID: in cases with ID starting with AKU_DB_ we report also HGD haplotypes that can be found in this link: HGD haplotypes associated with AKU mutations
DBID: AKU_00000 is used for alleles with unknown mutation

References not present in PubMed:
Aquaron et al. (2009) (not listed in PubMed): Current Rheumatology Reviews, 2009, 5:111-125. https://doi.org/10.2174/157339709788298419
Cho end Kim (2018) (not listed in PubMed): J Genet Med, 2018, 15:17-19. https://doi.org/10.5734/JGM.2018.15.1.17
Kilavuz et al. (2018) (not listed in PubMed): J. Pediatr. Res. 2018, 5: 7-11. https://doi.org/10.4274/jpr.20982
Akbaba et al. (2020) (not listed in PubMed): JPEM, 33 (2): 289-294, https://doi.org/10.1515/jpem-2019-0163
Mwafi et al. (2021) (not listed in PubMed): AIMS Molecular Science, 8 (1): 60-75, https://doi.org/10.3934/molsci.2021005
Noorian et al. (2018) (not listed in PubMed): Meta Gene, 18: 174-176, https://doi.org/10.1016/j.mgene.2018.09.006

Legend: [ HGD full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
HGD DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Original description: Variant_original_description Links: Links Variant remarks: Variant remarks Predicted Mutation Effect**: The effects of the novel missense variants on stability and protein-protein afinity was assessed in the context of the molecular interactions of the wild-type residue using mCSM and DUET. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Mutation HOT-SPOT: mutation_HOT_SPOT Allele code: Allele_code Type: Type of variant at DNA level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Location: Variant location at DNA level.

HGD mutation database

homogentisate 1,2-dioxygenase (HGD)